| 1 | g.152310532_152310537del | CA2647993558 | FLG | c.4353_4358del (p.Glu1452_Ser1453del)
| gnomAD v4 |
| 1 | g.152310529A= | CA2479950938 | FLG | c.4357T= (p.Ser1453=)
| |
| 1 | g.152310529A>C | CA342075088 | FLG | c.4357T>G (p.Ser1453Ala)
| |
| 1 | g.152310529A>G | CA342075091 | FLG | c.4357T>C (p.Ser1453Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310529A>T | CA342075105 | FLG | c.4357T>A (p.Ser1453Thr)
| |
| 1 | g.152310530C>A | CA342075109 | FLG | c.4356G>T (p.Glu1452Asp)
| |
| 1 | g.152310530C= | CA2479950939 | FLG | c.4356G= (p.Glu1452=)
| |
| 1 | g.152310530C>G | CA342075111 | FLG | c.4356G>C (p.Glu1452Asp)
| gnomAD v4 |
| 1 | g.152310530C>T | CA1106259 | FLG | c.4356G>A (p.Glu1452=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310531T>A | CA342075120 | FLG | c.4355A>T (p.Glu1452Val)
| |
| 1 | g.152310531T>C | CA342075125 | FLG | c.4355A>G (p.Glu1452Gly)
| |
| 1 | g.152310531T>G | CA342075126 | FLG | c.4355A>C (p.Glu1452Ala)
| |
| 1 | g.152310532C>A | CA342075129 | FLG | c.4354G>T (p.Glu1452Ter)
| gnomAD v4 |
| 1 | g.152310532C= | CA2479950940 | FLG | c.4354G= (p.Glu1452=)
| |
| 1 | g.152310532C>G | CA342075132 | FLG | c.4354G>C (p.Glu1452Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310532C>T | CA342075135 | FLG | c.4354G>A (p.Glu1452Lys)
| |
| 1 | g.152310533A= | CA2479950941 | FLG | c.4353T= (p.Ser1451=)
| |
| 1 | g.152310533A>C | CA420929821 | FLG | c.4353T>G (p.Ser1451=)
| |
| 1 | g.152310533A>G | CA420929822 | FLG | c.4353T>C (p.Ser1451=)
| |
| 1 | g.152310533A>T | CA420929823 | FLG | c.4353T>A (p.Ser1451=)
| dbSNP |
| 1 | g.152310534G>A | CA30554868 | FLG | c.4352C>T (p.Ser1451Phe)
| dbSNP gnomAD v4 |
| 1 | g.152310534G>C | CA342075139 | FLG | c.4352C>G (p.Ser1451Cys)
| gnomAD v4 |
| 1 | g.152310534G= | CA1144827408 | FLG | c.4352C= (p.Ser1451=)
| |
| 1 | g.152310534G>T | CA1106260 | FLG | c.4352C>A (p.Ser1451Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310535A>C | CA342075152 | FLG | c.4351T>G (p.Ser1451Ala)
| |
| 1 | g.152310535A>G | CA342075155 | FLG | c.4351T>C (p.Ser1451Pro)
| |
| 1 | g.152310535A>T | CA342075160 | FLG | c.4351T>A (p.Ser1451Thr)
| gnomAD v4 |
| 1 | g.152310536C>A | CA1106262 | FLG | c.4350G>T (p.Gln1450His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310536C= | CA2479950942 | FLG | c.4350G= (p.Gln1450=)
| |
| 1 | g.152310536C>G | CA1106263 | FLG | c.4350G>C (p.Gln1450His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310536C>T | CA1106261 | FLG | c.4350G>A (p.Gln1450=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310537T>A | CA342075178 | FLG | c.4349A>T (p.Gln1450Leu)
| |
| 1 | g.152310537T>C | CA342075181 | FLG | c.4349A>G (p.Gln1450Arg)
| |
| 1 | g.152310537T>G | CA342075184 | FLG | c.4349A>C (p.Gln1450Pro)
| |
| 1 | g.152310538G>A | CA342075189 | FLG | c.4348C>T (p.Gln1450Ter)
| |
| 1 | g.152310538G>C | CA342075191 | FLG | c.4348C>G (p.Gln1450Glu)
| |
| 1 | g.152310538G>T | CA342075194 | FLG | c.4348C>A (p.Gln1450Lys)
| |
| 1 | g.152310539T>A | CA342075204 | FLG | c.4347A>T (p.Glu1449Asp)
| |
| 1 | g.152310539T>C | CA420929834 | FLG | c.4347A>G (p.Glu1449=)
| |
| 1 | g.152310539T>G | CA342075201 | FLG | c.4347A>C (p.Glu1449Asp)
| |
| 1 | g.152310540T>A | CA342075209 | FLG | c.4346A>T (p.Glu1449Val)
| |
| 1 | g.152310540T>C | CA342075213 | FLG | c.4346A>G (p.Glu1449Gly)
| |
| 1 | g.152310540T>G | CA342075231 | FLG | c.4346A>C (p.Glu1449Ala)
| |
| 1 | g.152310541C>A | CA342075248 | FLG | c.4345G>T (p.Glu1449Ter)
| |
| 1 | g.152310541C= | CA1141349647 | FLG | c.4345G= (p.Glu1449=)
| |
| 1 | g.152310541C>G | CA30554884 | FLG | c.4345G>C (p.Glu1449Gln)
| dbSNP |
| 1 | g.152310541C>T | CA342075264 | FLG | c.4345G>A (p.Glu1449Lys)
| |
| 1 | g.152310542A= | CA1142180097 | FLG | c.4344T= (p.His1448=)
| |
| 1 | g.152310542A>C | CA1106264 | FLG | c.4344T>G (p.His1448Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310542A>G | CA420929841 | FLG | c.4344T>C (p.His1448=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310542A>T | CA342075273 | FLG | c.4344T>A (p.His1448Gln)
| |
| 1 | g.152310543T>A | CA1106265 | FLG | c.4343A>T (p.His1448Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310543T>C | CA342075285 | FLG | c.4343A>G (p.His1448Arg)
| gnomAD v4 |
| 1 | g.152310543T>G | CA342075282 | FLG | c.4343A>C (p.His1448Pro)
| gnomAD v4 |
| 1 | g.152310543T= | CA2479950943 | FLG | c.4343A= (p.His1448=)
| |
| 1 | g.152310544G>A | CA342075287 | FLG | c.4342C>T (p.His1448Tyr)
| gnomAD v4 |
| 1 | g.152310544G>C | CA342075289 | FLG | c.4342C>G (p.His1448Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310544G= | CA2479950944 | FLG | c.4342C= (p.His1448=)
| |
| 1 | g.152310544G>T | CA342075291 | FLG | c.4342C>A (p.His1448Asn)
| |
| 1 | g.152310545del | CA2573902903 | FLG | c.4341del (p.His1448MetfsTer?)
| gnomAD v4 |
| 1 | g.152310545A= | CA1143524040 | FLG | c.4341T= (p.Ser1447=)
| |
| 1 | g.152310545A>C | CA420929848 | FLG | c.4341T>G (p.Ser1447=)
| |
| 1 | g.152310545A>G | CA30554893 | FLG | c.4341T>C (p.Ser1447=)
| dbSNP |
| 1 | g.152310545A>T | CA420929849 | FLG | c.4341T>A (p.Ser1447=)
| |
| 1 | g.152310546G>A | CA342075300 | FLG | c.4340C>T (p.Ser1447Phe)
| |
| 1 | g.152310546G>C | CA342075317 | FLG | c.4340C>G (p.Ser1447Cys)
| gnomAD v4 |
| 1 | g.152310546G>T | CA342075302 | FLG | c.4340C>A (p.Ser1447Tyr)
| gnomAD v4 COSMIC |
| 1 | g.152310547A= | CA1143588874 | FLG | c.4339T= (p.Ser1447=)
| |
| 1 | g.152310547A>C | CA1106267 | FLG | c.4339T>G (p.Ser1447Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310547A>G | CA1106268 | FLG | c.4339T>C (p.Ser1447Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310547A>T | CA1106266 | FLG | c.4339T>A (p.Ser1447Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310548G>A | CA1106269 | FLG | c.4338C>T (p.Ser1446=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310548G>C | CA1106270 | FLG | c.4338C>G (p.Ser1446Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310548G= | CA1144111481 | FLG | c.4338C= (p.Ser1446=)
| |
| 1 | g.152310548G>T | CA342075339 | FLG | c.4338C>A (p.Ser1446Arg)
| |
| 1 | g.152310549C>A | CA342075342 | FLG | c.4337G>T (p.Ser1446Ile)
| |
| 1 | g.152310549C= | CA2479950945 | FLG | c.4337G= (p.Ser1446=)
| |
| 1 | g.152310549C>G | CA342075345 | FLG | c.4337G>C (p.Ser1446Thr)
| dbSNP gnomAD v4 |
| 1 | g.152310549C>T | CA1106271 | FLG | c.4337G>A (p.Ser1446Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310550T>A | CA342075351 | FLG | c.4336A>T (p.Ser1446Cys)
| |
| 1 | g.152310550T>C | CA342075355 | FLG | c.4336A>G (p.Ser1446Gly)
| |
| 1 | g.152310550T>G | CA342075357 | FLG | c.4336A>C (p.Ser1446Arg)
| |
| 1 | g.152310551C>A | CA420929859 | FLG | c.4335G>T (p.Val1445=)
| |
| 1 | g.152310551C>G | CA420929861 | FLG | c.4335G>C (p.Val1445=)
| |
| 1 | g.152310551C>T | CA420929862 | FLG | c.4335G>A (p.Val1445=)
| gnomAD v4 COSMIC |
| 1 | g.152310552A= | CA2479950946 | FLG | c.4334T= (p.Val1445=)
| |
| 1 | g.152310552A>C | CA342075360 | FLG | c.4334T>G (p.Val1445Gly)
| |
| 1 | g.152310552A>G | CA1106272 | FLG | c.4334T>C (p.Val1445Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310552A>T | CA342075366 | FLG | c.4334T>A (p.Val1445Glu)
| |
| 1 | g.152310553C>A | CA342075371 | FLG | c.4333G>T (p.Val1445Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310553C= | CA2479950947 | FLG | c.4333G= (p.Val1445=)
| |
| 1 | g.152310553C>G | CA342075374 | FLG | c.4333G>C (p.Val1445Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310553C>T | CA1106273 | FLG | c.4333G>A (p.Val1445Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310554C>A | CA342075375 | FLG | c.4332G>T (p.Gln1444His)
| dbSNP |
| 1 | g.152310554C= | CA2479950948 | FLG | c.4332G= (p.Gln1444=)
| |
| 1 | g.152310554C>G | CA1106274 | FLG | c.4332G>C (p.Gln1444His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310554C>T | CA1106275 | FLG | c.4332G>A (p.Gln1444=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310555T>A | CA342075384 | FLG | c.4331A>T (p.Gln1444Leu)
| dbSNP |
| 1 | g.152310555T>C | CA342075397 | FLG | c.4331A>G (p.Gln1444Arg)
| |
| 1 | g.152310555T>G | CA342075401 | FLG | c.4331A>C (p.Gln1444Pro)
| |
| 1 | g.152310555T= | CA2479950949 | FLG | c.4331A= (p.Gln1444=)
| |
| 1 | g.152310556G>A | CA342075405 | FLG | c.4330C>T (p.Gln1444Ter)
| dbSNP gnomAD v4 |
| 1 | g.152310556G>C | CA342075406 | FLG | c.4330C>G (p.Gln1444Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310556G= | CA2479950950 | FLG | c.4330C= (p.Gln1444=)
| |
| 1 | g.152310556G>T | CA342075407 | FLG | c.4330C>A (p.Gln1444Lys)
| |
| 1 | g.152310557G>A | CA420929873 | FLG | c.4329C>T (p.Tyr1443=)
| gnomAD v4 |
| 1 | g.152310557G>C | CA342075412 | FLG | c.4329C>G (p.Tyr1443Ter)
| gnomAD v4 |
| 1 | g.152310557G= | CA2479950951 | FLG | c.4329C= (p.Tyr1443=)
| |
| 1 | g.152310557G>T | CA342075414 | FLG | c.4329C>A (p.Tyr1443Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310558T>A | CA342075426 | FLG | c.4328A>T (p.Tyr1443Phe)
| |
| 1 | g.152310558T>C | CA342075419 | FLG | c.4328A>G (p.Tyr1443Cys)
| |
| 1 | g.152310558T>G | CA342075422 | FLG | c.4328A>C (p.Tyr1443Ser)
| |
| 1 | g.152310559A>C | CA342075431 | FLG | c.4327T>G (p.Tyr1443Asp)
| |
| 1 | g.152310559A>G | CA342075434 | FLG | c.4327T>C (p.Tyr1443His)
| |
| 1 | g.152310559A>T | CA342075450 | FLG | c.4327T>A (p.Tyr1443Asn)
| |
| 1 | g.152310560G>A | CA420929885 | FLG | c.4326C>T (p.Leu1442=)
| dbSNP gnomAD v4 |
| 1 | g.152310560G>C | CA420929886 | FLG | c.4326C>G (p.Leu1442=)
| COSMIC |
| 1 | g.152310560G= | CA2479950952 | FLG | c.4326C= (p.Leu1442=)
| |
| 1 | g.152310560G>T | CA420929883 | FLG | c.4326C>A (p.Leu1442=)
| gnomAD v4 |
| 1 | g.152310561A= | CA2479950953 | FLG | c.4325T= (p.Leu1442=)
| |
| 1 | g.152310561A>C | CA342075457 | FLG | c.4325T>G (p.Leu1442Arg)
| |
| 1 | g.152310561A>G | CA342075460 | FLG | c.4325T>C (p.Leu1442Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310561A>T | CA342075466 | FLG | c.4325T>A (p.Leu1442His)
| |
| 1 | g.152310562G>A | CA342075468 | FLG | c.4324C>T (p.Leu1442Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310562G>C | CA342075471 | FLG | c.4324C>G (p.Leu1442Val)
| |
| 1 | g.152310562G= | CA1143875243 | FLG | c.4324C= (p.Leu1442=)
| |
| 1 | g.152310562G>T | CA1106276 | FLG | c.4324C>A (p.Leu1442Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310563G>A | CA420929888 | FLG | c.4323C>T (p.Phe1441=)
| |
| 1 | g.152310563G>C | CA342075477 | FLG | c.4323C>G (p.Phe1441Leu)
| gnomAD v4 |
| 1 | g.152310563G= | CA2479950954 | FLG | c.4323C= (p.Phe1441=)
| |
| 1 | g.152310563G>T | CA342075480 | FLG | c.4323C>A (p.Phe1441Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310564A>C | CA342075497 | FLG | c.4322T>G (p.Phe1441Cys)
| |
| 1 | g.152310564A>G | CA342075498 | FLG | c.4322T>C (p.Phe1441Ser)
| gnomAD v4 |
| 1 | g.152310564A>T | CA342075485 | FLG | c.4322T>A (p.Phe1441Tyr)
| |
| 1 | g.152310565A>C | CA342075501 | FLG | c.4321T>G (p.Phe1441Val)
| |
| 1 | g.152310565A>G | CA342075505 | FLG | c.4321T>C (p.Phe1441Leu)
| |
| 1 | g.152310565A>T | CA342075508 | FLG | c.4321T>A (p.Phe1441Ile)
| |
| 1 | g.152310566A= | CA2479950955 | FLG | c.4320T= (p.Ser1440=)
| |
| 1 | g.152310566A>C | CA420929900 | FLG | c.4320T>G (p.Ser1440=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310566A>G | CA420929899 | FLG | c.4320T>C (p.Ser1440=)
| |
| 1 | g.152310566A>T | CA420929898 | FLG | c.4320T>A (p.Ser1440=)
| |
| 1 | g.152310567del | CA2573902915 | FLG | c.4319del (p.Ser1440PhefsTer6)
| gnomAD v4 |
| 1 | g.152310567G>A | CA342075512 | FLG | c.4319C>T (p.Ser1440Phe)
| |
| 1 | g.152310567G>C | CA342075514 | FLG | c.4319C>G (p.Ser1440Cys)
| gnomAD v4 |
| 1 | g.152310567G>T | CA342075518 | FLG | c.4319C>A (p.Ser1440Tyr)
| |
| 1 | g.152310568A= | CA2479950956 | FLG | c.4318T= (p.Ser1440=)
| |
| 1 | g.152310568A>C | CA342075523 | FLG | c.4318T>G (p.Ser1440Ala)
| gnomAD v4 |
| 1 | g.152310568A>G | CA342075526 | FLG | c.4318T>C (p.Ser1440Pro)
| |
| 1 | g.152310568A>T | CA342075529 | FLG | c.4318T>A (p.Ser1440Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310569C>A | CA342075533 | FLG | c.4317G>T (p.Arg1439Ser)
| |
| 1 | g.152310569C>G | CA342075536 | FLG | c.4317G>C (p.Arg1439Ser)
| |
| 1 | g.152310569C>T | CA420929911 | FLG | c.4317G>A (p.Arg1439=)
| gnomAD v4 |
| 1 | g.152310570C>A | CA342075540 | FLG | c.4316G>T (p.Arg1439Met)
| |
| 1 | g.152310570C= | CA2479950957 | FLG | c.4316G= (p.Arg1439=)
| |
| 1 | g.152310570C>G | CA342075542 | FLG | c.4316G>C (p.Arg1439Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310570C>T | CA1106277 | FLG | c.4316G>A (p.Arg1439Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310571T>A | CA342075553 | FLG | c.4315A>T (p.Arg1439Trp)
| |
| 1 | g.152310571T>C | CA1106278 | FLG | c.4315A>G (p.Arg1439Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310571T>G | CA420929914 | FLG | c.4315A>C (p.Arg1439=)
| |
| 1 | g.152310571T= | CA2479950958 | FLG | c.4315A= (p.Arg1439=)
| |
| 1 | g.152310572del | CA2573902926 | FLG | c.4315del (p.Arg1439GlyfsTer7)
| |
| 1 | g.152310572T>A | CA420929915 | FLG | c.4314A>T (p.Ser1438=)
| |
| 1 | g.152310572T>C | CA420929916 | FLG | c.4314A>G (p.Ser1438=)
| dbSNP |
| 1 | g.152310572T>G | CA420929917 | FLG | c.4314A>C (p.Ser1438=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310572T= | CA2479950959 | FLG | c.4314A= (p.Ser1438=)
| |
| 1 | g.152310573G>A | CA1106280 | FLG | c.4313C>T (p.Ser1438Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310573G>C | CA342075578 | FLG | c.4313C>G (p.Ser1438Ter)
| |
| 1 | g.152310573G= | CA1141952526 | FLG | c.4313C= (p.Ser1438=)
| |
| 1 | g.152310573G>T | CA1106279 | FLG | c.4313C>A (p.Ser1438Ter)
| dbSNP ExAC gnomAD v2 |
| 1 | g.152310574A>C | CA342075586 | FLG | c.4312T>G (p.Ser1438Ala)
| |
| 1 | g.152310574A>G | CA342075591 | FLG | c.4312T>C (p.Ser1438Pro)
| |
| 1 | g.152310574A>T | CA342075596 | FLG | c.4312T>A (p.Ser1438Thr)
| |
| 1 | g.152310574_152310616del | CA2647993560 | FLG | c.4270_4312del (p.Lys1424GlnfsTer8)
| gnomAD v4 |
| 1 | g.152310575A>C | CA420929921 | FLG | c.4311T>G (p.Arg1437=)
| |
| 1 | g.152310575A>G | CA420929925 | FLG | c.4311T>C (p.Arg1437=)
| |
| 1 | g.152310575A>T | CA420929926 | FLG | c.4311T>A (p.Arg1437=)
| |
| 1 | g.152310576C>A | CA342075600 | FLG | c.4310G>T (p.Arg1437Leu)
| |
| 1 | g.152310576C= | CA1143542556 | FLG | c.4310G= (p.Arg1437=)
| |
| 1 | g.152310576C>G | CA342075602 | FLG | c.4310G>C (p.Arg1437Pro)
| dbSNP |
| 1 | g.152310576C>T | CA1106281 | FLG | c.4310G>A (p.Arg1437His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310577G>A | CA1106282 | FLG | c.4309C>T (p.Arg1437Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310577G>C | CA342075611 | FLG | c.4309C>G (p.Arg1437Gly)
| |
| 1 | g.152310577G= | CA1140430020 | FLG | c.4309C= (p.Arg1437=)
| |
| 1 | g.152310577G>T | CA1106283 | FLG | c.4309C>A (p.Arg1437Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310578T>A | CA420929933 | FLG | c.4308A>T (p.Gly1436=)
| |
| 1 | g.152310578T>C | CA420929934 | FLG | c.4308A>G (p.Gly1436=)
| |
| 1 | g.152310578T>G | CA420929935 | FLG | c.4308A>C (p.Gly1436=)
| |
| 1 | g.152310579C>A | CA342075617 | FLG | c.4307G>T (p.Gly1436Val)
| |
| 1 | g.152310579C>G | CA342075629 | FLG | c.4307G>C (p.Gly1436Ala)
| gnomAD v4 |
| 1 | g.152310579C>T | CA342075626 | FLG | c.4307G>A (p.Gly1436Glu)
| |
| 1 | g.152310580C>A | CA342075633 | FLG | c.4306G>T (p.Gly1436Ter)
| |
| 1 | g.152310580C>G | CA342075641 | FLG | c.4306G>C (p.Gly1436Arg)
| gnomAD v4 |
| 1 | g.152310580C>T | CA342075636 | FLG | c.4306G>A (p.Gly1436Arg)
| |
| 1 | g.152310581A>C | CA420929941 | FLG | c.4305T>G (p.Ser1435=)
| |
| 1 | g.152310581A>G | CA420929940 | FLG | c.4305T>C (p.Ser1435=)
| gnomAD v4 |
| 1 | g.152310581A>T | CA420929938 | FLG | c.4305T>A (p.Ser1435=)
| |
| 1 | g.152310582G>A | CA342075646 | FLG | c.4304C>T (p.Ser1435Phe)
| |
| 1 | g.152310582G>C | CA342075665 | FLG | c.4304C>G (p.Ser1435Cys)
| gnomAD v4 |
| 1 | g.152310582G>T | CA342075661 | FLG | c.4304C>A (p.Ser1435Tyr)
| gnomAD v4 |
| 1 | g.152310583A>C | CA342075670 | FLG | c.4303T>G (p.Ser1435Ala)
| gnomAD v4 |
| 1 | g.152310583A>G | CA342075674 | FLG | c.4303T>C (p.Ser1435Pro)
| |
| 1 | g.152310583A>T | CA342075672 | FLG | c.4303T>A (p.Ser1435Thr)
| |
| 1 | g.152310584G>A | CA1106285 | FLG | c.4302C>T (p.Ser1434=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310584G>C | CA1106284 | FLG | c.4302C>G (p.Ser1434Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310584G= | CA1143490782 | FLG | c.4302C= (p.Ser1434=)
| |
| 1 | g.152310584G>T | CA342075683 | FLG | c.4302C>A (p.Ser1434Arg)
| gnomAD v4 COSMIC |
| 1 | g.152310585C>A | CA342075687 | FLG | c.4301G>T (p.Ser1434Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310585C= | CA2479950960 | FLG | c.4301G= (p.Ser1434=)
| |
| 1 | g.152310585C>G | CA1106286 | FLG | c.4301G>C (p.Ser1434Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310585C>T | CA342075688 | FLG | c.4301G>A (p.Ser1434Asn)
| gnomAD v4 |
| 1 | g.152310586T>A | CA342075697 | FLG | c.4300A>T (p.Ser1434Cys)
| |
| 1 | g.152310586T>C | CA342075692 | FLG | c.4300A>G (p.Ser1434Gly)
| |
| 1 | g.152310586T>G | CA342075695 | FLG | c.4300A>C (p.Ser1434Arg)
| gnomAD v4 |
| 1 | g.152310587T>A | CA342075712 | FLG | c.4299A>T (p.Glu1433Asp)
| |
| 1 | g.152310587T>C | CA420929949 | FLG | c.4299A>G (p.Glu1433=)
| |
| 1 | g.152310587T>G | CA342075715 | FLG | c.4299A>C (p.Glu1433Asp)
| |
| 1 | g.152310588T>A | CA342075722 | FLG | c.4298A>T (p.Glu1433Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310588T>C | CA1106287 | FLG | c.4298A>G (p.Glu1433Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310588T>G | CA342075734 | FLG | c.4298A>C (p.Glu1433Ala)
| |
| 1 | g.152310588T= | CA1148226716 | FLG | c.4298A= (p.Glu1433=)
| |
| 1 | g.152310588_152310589del | CA2647993561 | FLG | c.4297_4298del (p.Glu1433LysfsTer16)
| gnomAD v4 |
| 1 | g.152310589C>A | CA1106289 | FLG | c.4297G>T (p.Glu1433Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310589C= | CA1143536888 | FLG | c.4297G= (p.Glu1433=)
| |
| 1 | g.152310589C>G | CA1106288 | FLG | c.4297G>C (p.Glu1433Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310589C>T | CA30554963 | FLG | c.4297G>A (p.Glu1433Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310592del | CA2647993562 | FLG | c.4297del (p.Glu1433LysfsTer13)
| gnomAD v4 |
| 1 | g.152310590C>A | CA420929953 | FLG | c.4296G>T (p.Gly1432=)
| gnomAD v4 |
| 1 | g.152310590C>G | CA420929954 | FLG | c.4296G>C (p.Gly1432=)
| |
| 1 | g.152310590C>T | CA420929955 | FLG | c.4296G>A (p.Gly1432=)
| gnomAD v4 |
| 1 | g.152310591C>A | CA342075761 | FLG | c.4295G>T (p.Gly1432Val)
| |
| 1 | g.152310591C>G | CA342075764 | FLG | c.4295G>C (p.Gly1432Ala)
| gnomAD v4 |
| 1 | g.152310591C>T | CA342075769 | FLG | c.4295G>A (p.Gly1432Glu)
| gnomAD v4 COSMIC |
| 1 | g.152310591_152310592insTG | CA2647993564 | FLG | c.4294_4295insCA (p.Gly1432AlafsTer15)
| gnomAD v4 |
| 1 | g.152310592C>A | CA342075770 | FLG | c.4294G>T (p.Gly1432Trp)
| gnomAD v4 |
| 1 | g.152310592C= | CA1142056692 | FLG | c.4294G= (p.Gly1432=)
| |
| 1 | g.152310592C>G | CA342075771 | FLG | c.4294G>C (p.Gly1432Arg)
| gnomAD v4 |
| 1 | g.152310592C>T | CA30554970 | FLG | c.4294G>A (p.Gly1432Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310592_152310593delinsCT | CA2479950961 | FLG | c.4293_4294delinsAG (p.Ser1431=)
| |
| 1 | g.152310596_152310682del | CA2647993563 | FLG | c.4208_4294del (p.Glu1403_Ser1431del)
| gnomAD v4 |
| 1 | g.152310593del | CA1106290 | FLG | c.4293del (p.Glu1433LysfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310593T>A | CA420929957 | FLG | c.4293A>T (p.Ser1431=)
| |
| 1 | g.152310593T>C | CA420929958 | FLG | c.4293A>G (p.Ser1431=)
| dbSNP |
| 1 | g.152310593T>G | CA420929960 | FLG | c.4293A>C (p.Ser1431=)
| |
| 1 | g.152310593T= | CA2479950962 | FLG | c.4293A= (p.Ser1431=)
| |
| 1 | g.152310594del | CA342075779 | FLG | c.4292del (p.Ser1431Ter)
| |
| 1 | g.152310594G>A | CA342075775 | FLG | c.4292C>T (p.Ser1431Leu)
| |
| 1 | g.152310594G>C | CA342075776 | FLG | c.4292C>G (p.Ser1431Ter)
| |
| 1 | g.152310594G>T | CA342075777 | FLG | c.4292C>A (p.Ser1431Ter)
| |
| 1 | g.152310595A= | CA2479950963 | FLG | c.4291T= (p.Ser1431=)
| |
| 1 | g.152310595A>C | CA342075782 | FLG | c.4291T>G (p.Ser1431Ala)
| |
| 1 | g.152310595A>G | CA342075804 | FLG | c.4291T>C (p.Ser1431Pro)
| gnomAD v4 |
| 1 | g.152310595A>T | CA342075800 | FLG | c.4291T>A (p.Ser1431Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310596C>A | CA342075808 | FLG | c.4290G>T (p.Gln1430His)
| |
| 1 | g.152310596C= | CA2479950964 | FLG | c.4290G= (p.Gln1430=)
| |
| 1 | g.152310596C>G | CA342075810 | FLG | c.4290G>C (p.Gln1430His)
| |
| 1 | g.152310596C>T | CA420929967 | FLG | c.4290G>A (p.Gln1430=)
| dbSNP |
| 1 | g.152310597T>A | CA342075814 | FLG | c.4289A>T (p.Gln1430Leu)
| |
| 1 | g.152310597T>C | CA1106291 | FLG | c.4289A>G (p.Gln1430Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310597T>G | CA342075819 | FLG | c.4289A>C (p.Gln1430Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310597T= | CA1148459447 | FLG | c.4289A= (p.Gln1430=)
| |
| 1 | g.152310598G>A | CA1106292 | FLG | c.4288C>T (p.Gln1430Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310598G>C | CA342075823 | FLG | c.4288C>G (p.Gln1430Glu)
| dbSNP |
| 1 | g.152310598G= | CA2479950965 | FLG | c.4288C= (p.Gln1430=)
| |
| 1 | g.152310598G>T | CA342075825 | FLG | c.4288C>A (p.Gln1430Lys)
| |
| 1 | g.152310599G>A | CA1106293 | FLG | c.4287C>T (p.Gly1429=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310599G>C | CA420929973 | FLG | c.4287C>G (p.Gly1429=)
| |
| 1 | g.152310599G= | CA1145630627 | FLG | c.4287C= (p.Gly1429=)
| |
| 1 | g.152310599G>T | CA420929975 | FLG | c.4287C>A (p.Gly1429=)
| gnomAD v4 |
| 1 | g.152310600C>A | CA342075832 | FLG | c.4286G>T (p.Gly1429Val)
| gnomAD v4 |
| 1 | g.152310600C= | CA1148447202 | FLG | c.4286G= (p.Gly1429=)
| |
| 1 | g.152310600C>G | CA342075836 | FLG | c.4286G>C (p.Gly1429Ala)
| |
| 1 | g.152310600C>T | CA1106294 | FLG | c.4286G>A (p.Gly1429Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310601C>A | CA342075855 | FLG | c.4285G>T (p.Gly1429Cys)
| |
| 1 | g.152310601C= | CA2479950966 | FLG | c.4285G= (p.Gly1429=)
| |
| 1 | g.152310601C>G | CA342075845 | FLG | c.4285G>C (p.Gly1429Arg)
| gnomAD v4 |
| 1 | g.152310601C>T | CA342075849 | FLG | c.4285G>A (p.Gly1429Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310602A>C | CA420929982 | FLG | c.4284T>G (p.Arg1428=)
| gnomAD v4 |
| 1 | g.152310602A>G | CA420929984 | FLG | c.4284T>C (p.Arg1428=)
| |
| 1 | g.152310602A>T | CA420929980 | FLG | c.4284T>A (p.Arg1428=)
| |
| 1 | g.152310603C>A | CA1106296 | FLG | c.4283G>T (p.Arg1428Leu)
| dbSNP ExAC gnomAD v4 |
| 1 | g.152310603C= | CA1143383951 | FLG | c.4283G= (p.Arg1428=)
| |
| 1 | g.152310603C>G | CA342075863 | FLG | c.4283G>C (p.Arg1428Pro)
| gnomAD v4 |
| 1 | g.152310603C>T | CA1106295 | FLG | c.4283G>A (p.Arg1428His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310604G>A | CA1106297 | FLG | c.4282C>T (p.Arg1428Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310604G>C | CA342075871 | FLG | c.4282C>G (p.Arg1428Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310604G= | CA1143057778 | FLG | c.4282C= (p.Arg1428=)
| |
| 1 | g.152310604G>T | CA1106298 | FLG | c.4282C>A (p.Arg1428Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310605T>A | CA420929989 | FLG | c.4281A>T (p.Ala1427=)
| gnomAD v4 |
| 1 | g.152310605T>C | CA420929990 | FLG | c.4281A>G (p.Ala1427=)
| |
| 1 | g.152310605T>G | CA1106299 | FLG | c.4281A>C (p.Ala1427=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310605T= | CA1145298051 | FLG | c.4281A= (p.Ala1427=)
| |
| 1 | g.152310606G>A | CA342075887 | FLG | c.4280C>T (p.Ala1427Val)
| |
| 1 | g.152310606G>C | CA342075891 | FLG | c.4280C>G (p.Ala1427Gly)
| |
| 1 | g.152310606G>T | CA342075893 | FLG | c.4280C>A (p.Ala1427Glu)
| |
| 1 | g.152310607C>A | CA342075907 | FLG | c.4279G>T (p.Ala1427Ser)
| dbSNP gnomAD v4 |
| 1 | g.152310607C= | CA1142266278 | FLG | c.4279G= (p.Ala1427=)
| |
| 1 | g.152310607C>G | CA342075903 | FLG | c.4279G>C (p.Ala1427Pro)
| |
| 1 | g.152310607C>T | CA1106300 | FLG | c.4279G>A (p.Ala1427Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310608G>A | CA1106301 | FLG | c.4278C>T (p.Ser1426=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310608G>C | CA420930003 | FLG | c.4278C>G (p.Ser1426=)
| gnomAD v4 |
| 1 | g.152310608G= | CA1144092844 | FLG | c.4278C= (p.Ser1426=)
| |
| 1 | g.152310608G>T | CA420930004 | FLG | c.4278C>A (p.Ser1426=)
| |
| 1 | g.152310609G>A | CA342075925 | FLG | c.4277C>T (p.Ser1426Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310609G>C | CA342075916 | FLG | c.4277C>G (p.Ser1426Cys)
| |
| 1 | g.152310609G= | CA2479950967 | FLG | c.4277C= (p.Ser1426=)
| |
| 1 | g.152310609G>T | CA342075922 | FLG | c.4277C>A (p.Ser1426Tyr)
| dbSNP gnomAD v4 |
| 1 | g.152310610A= | CA2479950968 | FLG | c.4276T= (p.Ser1426=)
| |
| 1 | g.152310610A>C | CA342075929 | FLG | c.4276T>G (p.Ser1426Ala)
| |
| 1 | g.152310610A>G | CA342075931 | FLG | c.4276T>C (p.Ser1426Pro)
| dbSNP gnomAD v4 |
| 1 | g.152310610A>T | CA342075933 | FLG | c.4276T>A (p.Ser1426Thr)
| |
| 1 | g.152310610_152310611del | CA2586967291 | FLG | c.4275_4276del (p.Glu1425AspfsTer24)
| |
| 1 | g.152310611C>A | CA342075939 | FLG | c.4275G>T (p.Glu1425Asp)
| gnomAD v4 |
| 1 | g.152310611C= | CA2479950969 | FLG | c.4275G= (p.Glu1425=)
| |
| 1 | g.152310611C>G | CA342075944 | FLG | c.4275G>C (p.Glu1425Asp)
| |
| 1 | g.152310611C>T | CA1106302 | FLG | c.4275G>A (p.Glu1425=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310612T>A | CA342075952 | FLG | c.4274A>T (p.Glu1425Val)
| |
| 1 | g.152310612T>C | CA342075956 | FLG | c.4274A>G (p.Glu1425Gly)
| |
| 1 | g.152310612T>G | CA342075957 | FLG | c.4274A>C (p.Glu1425Ala)
| |
| 1 | g.152310613C>A | CA342075971 | FLG | c.4273G>T (p.Glu1425Ter)
| |
| 1 | g.152310613C= | CA2479950971 | FLG | c.4273G= (p.Glu1425=)
| |
| 1 | g.152310613C>G | CA342075967 | FLG | c.4273G>C (p.Glu1425Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310613C>T | CA342075964 | FLG | c.4273G>A (p.Glu1425Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310613_152310615delinsCTT | CA2479950970 | FLG | c.4271_4273delinsAAG (p.Lys1424=)
| |
| 1 | g.152310614T>A | CA342075979 | FLG | c.4272A>T (p.Lys1424Asn)
| |
| 1 | g.152310614T>C | CA30554998 | FLG | c.4272A>G (p.Lys1424=)
| dbSNP |
| 1 | g.152310614T>G | CA342075984 | FLG | c.4272A>C (p.Lys1424Asn)
| |
| 1 | g.152310614T= | CA1145122411 | FLG | c.4272A= (p.Lys1424=)
| |
| 1 | g.152310614_152310616delinsTTT | CA1149119318 | FLG | c.4270_4272delinsAAA (p.Lys1424=)
| |
| 1 | g.152310615_152310616del | CA1106303 | FLG | c.4271_4272del (p.Lys1424ArgfsTer25)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310615T>A | CA342075991 | FLG | c.4271A>T (p.Lys1424Ile)
| gnomAD v4 |
| 1 | g.152310615T>C | CA342075997 | FLG | c.4271A>G (p.Lys1424Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310615T>G | CA342076000 | FLG | c.4271A>C (p.Lys1424Thr)
| |
| 1 | g.152310615T= | CA2479950972 | FLG | c.4271A= (p.Lys1424=)
| |
| 1 | g.152310616T>A | CA342076007 | FLG | c.4270A>T (p.Lys1424Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310616T>C | CA342076010 | FLG | c.4270A>G (p.Lys1424Glu)
| |
| 1 | g.152310616T>G | CA342076013 | FLG | c.4270A>C (p.Lys1424Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152310616T= | CA2479950973 | FLG | c.4270A= (p.Lys1424=)
| |
| 1 | g.152310617G>A | CA420930027 | FLG | c.4269C>T (p.His1423=)
| |
| 1 | g.152310617G>C | CA1106304 | FLG | c.4269C>G (p.His1423Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310617G= | CA1143654117 | FLG | c.4269C= (p.His1423=)
| |
| 1 | g.152310617G>T | CA342076018 | FLG | c.4269C>A (p.His1423Gln)
| gnomAD v4 |
| 1 | g.152310618T>A | CA342076032 | FLG | c.4268A>T (p.His1423Leu)
| |
| 1 | g.152310618T>C | CA342076027 | FLG | c.4268A>G (p.His1423Arg)
| |
| 1 | g.152310618T>G | CA342076024 | FLG | c.4268A>C (p.His1423Pro)
| |
| 1 | g.152310619G>A | CA342076038 | FLG | c.4267C>T (p.His1423Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310619G>C | CA342076039 | FLG | c.4267C>G (p.His1423Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152310619G= | CA1144037200 | FLG | c.4267C= (p.His1423=)
| |
| 1 | g.152310619G>T | CA1106305 | FLG | c.4267C>A (p.His1423Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310620G>A | CA420930029 | FLG | c.4266C>T (p.Ser1422=)
| |
| 1 | g.152310620G>C | CA342076040 | FLG | c.4266C>G (p.Ser1422Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310620G= | CA2479950974 | FLG | c.4266C= (p.Ser1422=)
| |
| 1 | g.152310620G>T | CA342076042 | FLG | c.4266C>A (p.Ser1422Arg)
| |
| 1 | g.152310621C>A | CA342076053 | FLG | c.4265G>T (p.Ser1422Ile)
| |
| 1 | g.152310621C>G | CA342076050 | FLG | c.4265G>C (p.Ser1422Thr)
| |
| 1 | g.152310621C>T | CA342076046 | FLG | c.4265G>A (p.Ser1422Asn)
| gnomAD v4 |
| 1 | g.152310622T>A | CA342076057 | FLG | c.4264A>T (p.Ser1422Cys)
| |
| 1 | g.152310622T>C | CA342076061 | FLG | c.4264A>G (p.Ser1422Gly)
| |
| 1 | g.152310622T>G | CA342076063 | FLG | c.4264A>C (p.Ser1422Arg)
| |
| 1 | g.152310623C>A | CA342076067 | FLG | c.4263G>T (p.Gln1421His)
| dbSNP |
| 1 | g.152310623C= | CA1148235592 | FLG | c.4263G= (p.Gln1421=)
| |
| 1 | g.152310623C>G | CA1106307 | FLG | c.4263G>C (p.Gln1421His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310623C>T | CA1106306 | FLG | c.4263G>A (p.Gln1421=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152310624T>A | CA342076077 | FLG | c.4262A>T (p.Gln1421Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310624T>C | CA1106308 | FLG | c.4262A>G (p.Gln1421Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310624T>G | CA342076082 | FLG | c.4262A>C (p.Gln1421Pro)
| |
| 1 | g.152310624T= | CA2479950975 | FLG | c.4262A= (p.Gln1421=)
| |
| 1 | g.152310625G>A | CA342076086 | FLG | c.4261C>T (p.Gln1421Ter)
| COSMIC |
| 1 | g.152310625G>C | CA342076089 | FLG | c.4261C>G (p.Gln1421Glu)
| |
| 1 | g.152310625G>T | CA342076092 | FLG | c.4261C>A (p.Gln1421Lys)
| |
| 1 | g.152310626C>A | CA342076095 | FLG | c.4260G>T (p.Gln1420His)
| gnomAD v4 |
| 1 | g.152310626C>G | CA342076100 | FLG | c.4260G>C (p.Gln1420His)
| |
| 1 | g.152310626C>T | CA420930041 | FLG | c.4260G>A (p.Gln1420=)
| |
| 1 | g.152310627T>A | CA342076106 | FLG | c.4259A>T (p.Gln1420Leu)
| |
| 1 | g.152310627T>C | CA342076109 | FLG | c.4259A>G (p.Gln1420Arg)
| |
| 1 | g.152310627T>G | CA342076112 | FLG | c.4259A>C (p.Gln1420Pro)
| |
| 1 | g.152310628G>A | CA342076115 | FLG | c.4258C>T (p.Gln1420Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152310628G>C | CA342076118 | FLG | c.4258C>G (p.Gln1420Glu)
| |
| 1 | g.152310628G= | CA2479950976 | FLG | c.4258C= (p.Gln1420=)
| |
| 1 | g.152310628G>T | CA342076123 | FLG | c.4258C>A (p.Gln1420Lys)
| dbSNP |
| 1 | g.152310629A= | CA2479950977 | FLG | c.4257T= (p.His1419=)
| |
| 1 | g.152310629A>C | CA342076131 | FLG | c.4257T>G (p.His1419Gln)
| gnomAD v4 |
| 1 | g.152310629A>G | CA420930050 | FLG | c.4257T>C (p.His1419=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152310629A>T | CA342076126 | FLG | c.4257T>A (p.His1419Gln)
| gnomAD v4 |
